High Microsatellite and SNP Genotyping Success Rates Established in a Large Number of Genomic DNA Samples Extracted From Mouth Swabs and Genotypes

Min, Josine L.; Lakenberg, Nico; Bakker-Verweij, Margreet; Suchiman, Eka; Boomsma, Dorret I.; Slagboom, P. Eline; Meulenbelt, Ingrid

doi:10.1375/183242706778024973

Cited by 16 publications

(14 citation statements)

References 12 publications

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“…Self-collection of buccal cells is a safe, simple, and cheap method that can be used to reduce the cost of specimen collection and is often preferred over blood collection by participants. Several methods are used for collecting buccal cells, including swabs, cytobrushes, and a mouthwash protocol (Meulenbelt et al, 1995;Min et al, 2006;Vaught & Henderson, 2011). Other sources of DNA include, for example, toe nails (Hogervorst et al, 2014).…”

Section: Twin Research and Human Geneticsmentioning

confidence: 99%

Establishing a Twin Register: An Invaluable Resource for (Behavior) Genetic, Epidemiological, Biomarker, and ‘Omics’ Studies

et al. 2018

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Twin registers are wonderful research resources for research applications in medical and behavioral genetics, epidemiology, psychology, molecular genetics, and other areas of research. New registers continue to be launched all over the world as researchers from different disciplines recognize the potential to boost and widen their research agenda. In this article, we discuss multiple aspects that need to be taken into account when initiating a register, from its preliminary sketch to its actual development. This encompasses aspects related to the strategic planning and key elements of research designs, promotion and management of a twin register, including recruitment and retaining of twins and family members of twins, phenotyping, database organization, and collaborations between registers. We also present information on questions unique to twin registers and twin-biobanks, such as the assessment of zygosity by SNP arrays, the design of (biomarker) studies involving related participants, and the analyses of clustered data. Altogether, we provide a number of basic guidelines and recommendations for reflection when planning a twin register.

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Section: Twin Research and Human Geneticsmentioning

confidence: 99%

Establishing a Twin Register: An Invaluable Resource for (Behavior) Genetic, Epidemiological, Biomarker, and ‘Omics’ Studies

et al. 2018

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“…DNA is collected from whole blood (e.g., van Dijk et al, 1996) or, in the majority of YNTR families, by buccal swabs (Meulenbelt et al, 1995), which has proven to be successful for microsatellite and short nucleotide polymorphism (SNP) genotyping (Min et al, 2006). Presently, whole-genome SNP data from blood or buccal DNA are available for 3,813 YNTR family members (360 persons participated in both YNTR and ANTR).…”

Section: Dna Collection and Zygosity Typingmentioning

confidence: 99%

The Young Netherlands Twin Register (YNTR): Longitudinal Twin and Family Studies in Over 70,000 Children

et al. 2012

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The Netherlands Twin Register (NTR) began in 1987 with data collection in twins and their families, including families with newborn twins and triplets. Twenty-five years later, the NTR has collected at least one survey for 70,784 children, born after 1985. For the majority of twins, longitudinal data collection has been done by age-specific surveys. Shortly after giving birth, mothers receive a first survey with items on pregnancy and birth. At age 2, a survey on growth and achievement of milestones is sent. At ages 3, 7, 9/10, and 12 parents and teachers receive a series of surveys that are targeted at the development of emotional and behavior problems. From age 14 years onward, adolescent twins and their siblings report on their behavior problems, health, and lifestyle. When the twins are 18 years and older, parents are also invited to take part in survey studies. In sub-groups of different ages, in-depth phenotyping was done for IQ, electroencephalography , MRI, growth, hormones, neuropsychological assessments, and cardiovascular measures. DNA and biological samples have also been collected and large numbers of twin pairs and parents have been genotyped for zygosity by either micro-satellites or sets of short nucleotide polymorphisms and repeat polymorphisms in candidate genes. Subject recruitment and data collection is still ongoing and the longitudinal database is growing. Data collection by record linkage in the Netherlands is beginning and we expect these combined longitudinal data to provide increased insights into the genetic etiology of development of mental and physical health in children and adolescents.

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“…DNA was extracted from saliva [16] using buffer published elsewhere [17] . Samples were genotyped using Illumina HumanOmni 2.5-8 BeadChip arrays by the genotyping service provider Expression Analysis ® , Inc. Genotype calling was conducted with the GenomeStudio v2011.1 software package on 2,379,855 SNPs from 51 individuals.…”

Section: Genotypingmentioning

confidence: 99%

Molecular Genetic Evidence for Shared Etiology of Autism and Prodigy

Ruthsatz¹,

Petrill²,

et al. 2015

Hum Hered

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Child prodigies are rare individuals with an exceptional working memory and unique attentional skills that may facilitate the attainment of professional skill levels at an age well before what is observed in the general population. Some characteristics of prodigy have been observed to be quantitatively similar to those observed in autism spectrum disorder (ASD), suggesting possible shared etiology, though objectively validated prodigies are so rare that evidence has been sparse. We performed a family-based genome-wide linkage analysis on 5 nuclear and extended families to search for genetic loci that influence the presence of both prodigy and ASD, assuming that the two traits have the same genetic etiology in the analysis model in order to find shared loci. A shared locus on chromosome 1p31-q21 reached genome-wide significance with two extended family-based linkage methods consisting of the Bayesian PPL method and the LOD score maximized over the trait parameters (i.e., MOD), yielding a simulation-based empirical significance of p = 0.000742 and p = 0.000133, respectively. Within linkage regions, we performed association analysis and assessed if copy number variants could account for the linkage signal. No evidence of specificity for either the prodigy or the ASD trait was observed. This finding suggests that a locus on chromosome 1 increases the likelihood of both prodigy and autism in these families.

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High Microsatellite and SNP Genotyping Success Rates Established in a Large Number of Genomic DNA Samples Extracted From Mouth Swabs and Genotypes

Cited by 16 publications

References 12 publications

Establishing a Twin Register: An Invaluable Resource for (Behavior) Genetic, Epidemiological, Biomarker, and ‘Omics’ Studies

Establishing a Twin Register: An Invaluable Resource for (Behavior) Genetic, Epidemiological, Biomarker, and ‘Omics’ Studies

The Young Netherlands Twin Register (YNTR): Longitudinal Twin and Family Studies in Over 70,000 Children

Molecular Genetic Evidence for Shared Etiology of Autism and Prodigy

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